SM Vandriel et al. Hepatology 2023; 77: 512-529. Open Access! Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

This was a very large retrospective study (with more than 90 authors) with 1433 children.

Key findings:

• Only 40.3% of children reach adulthood with their native liver; 54.4% had their native liver at 10 years of life
• “It is noteworthy that bile duct paucity was reported in only 65% of liver biopsies performed during the first 3 months of life, the period during which there are diagnostic challenges with distinguishing ALGS from syndromic BA.” Thus, with a liver biopsy, there is a significant risk of misdiagnosis
• The all‐cause mortality rate was 8.5%
• The total bilirubin level between 6-12 months of life had significant predictive value. In the associated editorial: “The authors reported that 79% of patients with median TB of <5.0 mg/dL..reached adulthood with their native livers, whereas only 31.6% and 18.2% of patients with median TB levels between” 5-10 and >10 mg/dL survived into adulthood with their native livers.
• The editorial makes the point that this data will be helpful and ongoing studies will be needed to determine the effectiveness of novel treatments (e.g. IBAT inhibitors)

My take: This is a very useful study in understanding the long term outcomes of Alagille syndrome.

Related blog posts:

• NASPGHAN Alagille Syndrome Webinar
• Intracranial Hypertension & Papilledema with Alagille Syndrome
• Explaining Differences in Disease Severity for Alagille Syndrome
• IQ and Pediatric Chronic Liver Disease
• Liver Briefs: HLH in Infancy, Maralixibat for Alagille Syndrome, Liver Disease Due to Inborn Errors of Immunity

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